Alleles ; Amelogenin/genetics* ; Chromosomes, Human, Y ; Humans ; Male ; Sex Determination Analysis

Objective To estimate sex based on patella measurements of Sichuan Han population by computed tomography three-dimensional volume reconstruction technique, and to explore the application value of patella in sex estimation. Methods CT three-dimensional volume reconstruction images of patella of 250 individuals were collected, the four measurement indicators including patellar length, patellar width, patellar thickness, and patellar volume were measured. The t-test was used to determine measurement indicators with sex differences. Fisher discriminant analysis was used to establish the sex discriminant function and the prediction accuracy was calculated by leave-one-out cross validation. Results The sex differences of the four measurement indicators had a statistical significance （P<0.05）. The accuracy rate of the univariate discriminant function established by the patellar length was the highest （82.0%）. The accuracy rates of the all indicators discriminant function and the stepwise discriminant function were 80.4% and 81.6%, respectively. Conclusion It is feasible and accurate to estimate sex of Sichuan Han population by patella measurements with CT three-dimensional volume reconstruction technique. The method may be used as an alternative for sex estimation of Sichuan Han population when other bones with higher accuracy are not available.
Discriminant Analysis ; Female ; Forensic Anthropology ; Humans ; Imaging, Three-Dimensional ; Male ; Patella/diagnostic imaging* ; Sex Determination by Skeleton ; Tomography, X-Ray Computed

Objective Logistic regression method was used to establish a multiple regression sex discriminant function to discriminate the complete skull model and the incomplete skull model without frontal bone, occipital bone and mandible of Uygur adults in Turpan, Xinjiang. Methods A total of 117 （60 male and 57 female） three-dimensional skull models were collected by CT. Sixteen cranial measurement indexes were measured and calculated by computer software. The multivariate regression sex discriminant function was established with Logistic regression method and retrospectively tested. Results Among the 16 measurement indexes, except for nose width （x₇） and maximum frontal breadth （x₁₃）, the remaining 14 indexes had statistical significance of differences between male and female （P<0.05）. For the discriminant function of complete skull established by eyebrow arch convexity （x₄）, mastoid width （x₆）, maximum cranial length （x₁₂）, cranial base length （x₁₅）, cranial circumference （x₁₆）, the male and female discrimination accuracy was 90.0% and 94.7%, respectively. For the sex discriminant function of incomplete skull without frontal bone established by mandibular angle width （x₁₀）, mandibular height （x₁₁） and cranial circumference （x₁₆）, the discrimination accuracy of male and female was 85.0% and 84.2%, respectively. For the sex discriminant function of incomplete skull without occipital bone established by the index of eyebrow arch convexity （x₄）, the discrimination accuracy of male and female was 80.0% and 73.7%, respectively. For the sex discriminant function of incomplete skull without mandible established by frontal chord （x₅） and occipital protrusion angle （x₉）, the discrimination accuracy of male and female was 85.0% and 78.9%, respectively. Conclusion The computer software and system developed in our study can achieve sex discrimination of complete skulls and incomplete skulls without frontal bone, occipital bone or mandible.
Adult ; China ; Discriminant Analysis ; Ethnicity ; Female ; Forensic Anthropology ; Humans ; Imaging, Three-Dimensional ; Jaw/diagnostic imaging* ; Male ; Retrospective Studies ; Sex Characteristics ; Sex Determination by Skeleton/methods* ; Skull/diagnostic imaging* ; Tomography, X-Ray Computed/methods*

OBJECTIVES: To observe and analyse the Amelogenin allelic loss in parent-child identification cases, and to explore the type and mechanism of Amelogenin allelic loss as well as its influence on gender identification and solutions. METHODS: After the detection by SiFaSTR™ 23plex DNA identification system, samples had the characteristics of the peak area of Amelogenin X was the same as the one of adjacent heterozygote or lower than one half of adjacent homozygote in females while Amelogenin X loss was observed in males were selected. X chromosome STR （X-STR） typing and Amelogenin X sequencing were performed. The samples with Amelogenin Y loss in males were confirmed by the detection of Y chromosome STR typing and sex-determining region of Y （SRY）. The type and rate of Amelogenin allelic loss were confirmed and calculated, and the mechanism and influence of this variation were also analysed. RESULTS: Amelogenin X allelic loss was observed in one male sample, the mutation in primer-binding region was confirmed by sequencing. The suspected Amelogenin X allelic loss was observed in four female samples, but the mutation in primer-binding region was confirmed by sequencing in only one sample. Amelogenin Y allelic loss was observed in seven male samples, SRY positive cases was detected in five of them, and two were SRY negative. Y-STR type was detected in four cases of the five SRY positive cases, which was not detected in the two SRY negative cases. The rate of Amelogenin allelic loss was about 0.029%. CONCLUSIONS Amelogenin X allelic loss does not affect the gender identification, but Amelogenin Y allelic loss may cause wrong gender identification. Thus, Y-STR or SRY should be detected for gender confirmation. When Y-STR genotypes are not detected in a "male" whose SRY detection is also negative, then the chromosome karyotype analysis and sex differentiation related genes test should be taken to further confirm the gender.
Amelogenin/genetics* ; DNA/genetics* ; Female ; Humans ; Loss of Heterozygosity/genetics* ; Male ; Sex Determination Analysis

Sex estimation is one of the crucial procedures in the biological profile identification of human skeletal remains. Knowing sex of unknown case can lead to accurate and appropriate methods for predicting age, stature, ancestry, or even personal identification. Skull is one of the most reliable one among other skeletons and it is usually retained for both archaeological and forensic contexts. Although many morphological features and metric measurements of skull have been studied for sexing, but to the best of our knowledge is no study on maxillary suture length for sex estimation. Therefore, this study aims to develop a new sex estimation method for a Thai population by determining three maxillary suture lengths: anterior, transverse, and posterior maxillary suture, by computerizing amount of pixel obtained from photographs of these sutures. The present study was conducted on 190 Thai bone samples of which 96 were males and 94 were females. Independent t test revealed statistically significant difference (P < 0.01) between males and females in all maxillary suture measurements. Equations derived from prediction model, which required three maxillary suture lengths gave 76.8421% accuracy from the leave-one-out cross validation in estimating sex percentage accuracies in predicting sex from these equations, which were relatively moderate. This study provides a novel and objective sex estimation method for Thais. It suggests that maxillary suture length can be applied for sex estimation. The new computerized technique will contribute basis knowledge and method for sex estimation, especially when only base of skull is available in forensic circumstance.
Asian Continental Ancestry Group* ; Cranial Sutures ; Female ; Humans ; Male ; Methods* ; Sex Determination Analysis ; Skeleton ; Skull ; Skull Base ; Sutures* ; Thailand

Individual identification by measuring the human skeleton is an important research in the field of forensic anthropology. Computed tomography （CT） technology can provide high-resolution image of skeleton. Skeleton image can be reformed by software in the post-processing workstation. Different skeleton measurement indexes of anthropology, such as diameter, angle, area and volume, can be measured on section and reformative images. Measurement process is barely affected by human factors. This paper reviews the literatures at home and abroad about the application of measuring skeleton by CT in forensic anthropology research for individual identification in four aspects, including sex determination, height infer, facial soft tissue thickness measurement and age estimation. The major technology and the application of CT in forensic anthropology research are compared and discussed, respectively.
Age Determination by Skeleton ; Bone and Bones/diagnostic imaging* ; Forensic Anthropology/trends* ; Humans ; Sex Determination Analysis ; Software ; Tomography, X-Ray Computed/methods*

OBJECTIVETo investigate the clinical and genetic characteristics of a patient with mixed gonadal dysgenesis.

METHODSClinical data was collected. The patient was subjected for serum hormone testing and G-banding chromosomal analysis. Sex-determining region of Y-chromosome (SRY) gene and azoospermia factor (AZF) a, b, c regions were analyzed with multiple polymerase chain reaction (PCR) and whole gene sequencing.

RESULTSAll serum hormone testing were normal. The karyotype of the patient was 45,X/46,X,Yqh-. PCR has proven the presence of SRY, ZFY and AZFa, and deletion of AZFb and AZFc regions. No mutation was detected in the sequence of the SRY gene. Abdominal computerized tomography has detected a huge mass in the pelvic cavity, which was positive for PLAP and CD117 on immunohistochemistry stain.

CONCLUSIONBased on clinical data and result of genetic testing, the patient was diagnosed with mixed gonadal dysgenesis. Pathological and immunohistochemistry analysis of the transformed gland has confirmed the diagnosis of seminoma. For patient with a karyotype of 45,X/46,X,Yqh-, the risk of seminoma may be related with the presence of SRY gene.

Chromosome Banding ; Chromosomes, Human, Y ; genetics ; Female ; Genes, sry ; Gonadal Dysgenesis, Mixed ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Sex Determination Analysis

OBJECTIVE: To explore the feasibility of detecting of Y-STR of fetal DNA in maternal plasma using Ion Torrent PGM™ System. METHODS: A total of 16 fetal DNA samples from maternal plasmas (8 cases from 38 weeks gestational age and 8 ones from 12 weeks) were prepared and a multiplex assay with 7 STR loci (DYS390, DYS391, DYS393, DYS438, DYS437, DYS456, DYS635) was designed for multiplex-PCR amplification. Using Ion Torrent PGM™ System, the results of Y-STR sequences and capillary electrophoresis were obtained and compared. RESULTS: Y-STR specific alleles were detected in the maternal plasma of all the pregnant women having male babies of second and third trimester, which were higher than that detected by capillary electrophoresis. Consistent Y-STR genotypes were observed between fetal DNA from maternal plasma and genomic DNA from the newborn babies. CONCLUSION Based on Ion Torrent PGM™ System, the prenatal Y-STR detection method may provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.
Alleles ; Chromosomes, Human, Y/genetics* ; DNA/blood* ; Family ; Female ; Fetal Blood/chemistry* ; Genotype ; Haplotypes ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Pregnancy ; Sensitivity and Specificity ; Sex Determination Analysis ; Tandem Repeat Sequences/genetics*

OBJECTIVETo extracted DNA from ancient human teeth dated 3000 years ago unearthed in Xi'an and determine the genders for the individuals.

METHODSThirty five ancient human teeth were studied. A 'Reverse-root-canal' technique and a Chelex-100 solution were used to extract the DNA. Specific primers for Amelogenin gene were designed for PCR amplification.

RESULTSGenomic DNA was successfully extracted from 30 samples, for which 8 were determined to be males and 22 were females.

CONCLUSIONThe 'Reverse-root-canal' technique may be used for extracting DNA from ancient human teeth. Genetics method can supplement physical anthropology for determination of sex for ancient samples.

Amelogenin ; genetics ; China ; DNA ; analysis ; genetics ; isolation & purification ; Female ; History, Ancient ; Humans ; Male ; Paleodontology ; Polymerase Chain Reaction ; Sex Determination Analysis ; Tooth ; chemistry

The traditional costicartilage analysis inspection is limited to morphological inspection. In recent years, with the development of forensic radiology and molecular genetics, the costicartilage analysis inspection technology has been further enriched and developed. At present, the costicartilage analysis inspection technology have been able to be used in the practice of forensic medicine. This paper reviews the research advances about the costicartilage analysis inspection technology in the identification of human gender, age and so on in order to provide the references for forensic appraisers.
Age Determination by Skeleton/methods* ; Age Factors ; Calcification, Physiologic ; Cartilage/physiology* ; DNA/isolation & purification* ; DNA Fingerprinting/methods* ; Female ; Forensic Anthropology ; Forensic Medicine/methods* ; Humans ; Male ; Polymerase Chain Reaction/methods* ; Ribs/physiology* ; Sex Characteristics ; Sex Determination Analysis/methods*